Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications

The chromosome region 22q11.2 has long been recognized to be susceptible to genomic rearrangement. More recently, this genomic instability has been shown to extend distally (involving LCR22E–H) to the commonly deleted/duplicated region. To date, 21 index cases with ‘distal’ 22q11.2 duplications have...

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Détails bibliographiques
Auteurs principaux: Wincent, J., Bruno, D.L., van Bon, B.W.M., Bremer, A., Stewart, H., Bongers, E.M.H.F., Ockeloen, C.W., Willemsen, M.H., Keays, D.D.A., Baird, G., Newbury, D.F., Kleefstra, T., Marcelis, C., Kini, U., Stark, Z., Savarirayan, R., Sheffield, L.J., Zuffardi, O., Slater, H.R., de Vries, B.B., Knight, S.J.L., Anderlid, B.-M., Schoumans, J.
Format: Artigo
Langue:Inglês
Publié: S. Karger AG 2011
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Original Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3214948/
https://ncbi.nlm.nih.gov/pubmed/22140377
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000327982
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